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Keywords: intellectual disability
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Biochem Soc Trans (2024) 52 (1): 15–27.
Published: 30 January 2024
... , 28 , 29 ]. autism CHD8 chromatin intellectual disability neurodevelopmental disorders Derafshi et al. [ 29 ] recently reported CHD8 recruitment to gene promoters in human iPSC-derived excitatory neurons. CHD8-associated regions were significantly enriched for ETS and YY1 motifs...
Biochem Soc Trans (2020) 48 (5): 2101–2115.
Published: 08 September 2020
... melanogaster intellectual disability microcephaly neural stem cells Microcephaly is a neurological condition characterized by an abnormally small cerebral cortex and a head circumference that is more than two standard deviations below the population mean [ 1 ]. The characteristic small head...
Includes: Supplementary data
Biochem Soc Trans (2015) 43 (6): 1259–1265.
Published: 27 November 2015
... for neuron differentiation and maintenance [ 2 ]. Translocations, single nt polymorphisms (SNPs) and copy number variations (CNVs), mainly deletions, in RBFOX1 are associated with autism spectrum disorders (ASDs), intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), epilepsy...